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Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
Downie, Lilian; Halliday, Jane; Burt, Rachel; Lunke, Sebastian; Lynch, Elly; Martyn, Melissa; Poulakis, Zeffie; Gaff, Clara; Sung, Valerie; Wake, Melissa; Hunter, Matthew F; Saunders, Kerryn; Rose, Elizabeth; Lewis, Sharon; Jarmolowicz, Anna; Phelan, Dean; Rehm, Heidi L; Amor, David J.
Affiliation
  • Downie L; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
  • Halliday J; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Burt R; Royal Children's Hospital, Melbourne, VIC, Australia.
  • Lunke S; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Lynch E; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Martyn M; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Poulakis Z; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Gaff C; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Sung V; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
  • Wake M; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Hunter MF; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Saunders K; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
  • Rose E; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Lewis S; Melbourne Genomics Health Alliance, Melbourne, VIC, Australia.
  • Jarmolowicz A; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Phelan D; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Rehm HL; Melbourne Genomics Health Alliance, Melbourne, VIC, Australia.
  • Amor DJ; Royal Children's Hospital, Melbourne, VIC, Australia.
Eur J Hum Genet ; 28(5): 587-596, 2020 05.
Article in En | MEDLINE | ID: mdl-31827275
Subject(s)
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Neonatal Screening / Exome Sequencing / Hearing Loss Type of study: Diagnostic_studies / Etiology_studies / Evaluation_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Infant / Male / Newborn Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Australia
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Neonatal Screening / Exome Sequencing / Hearing Loss Type of study: Diagnostic_studies / Etiology_studies / Evaluation_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Infant / Male / Newborn Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Australia